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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | oct-2022 | A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones | Segovia-Falquina, Cristina; Vilas, Alicia; Leal, Fátima CSIC; Caño-Ochoa, Francisco del CSIC ORCID; Kirk, Edwin P.; Ugarte, Magdalena CSIC ; Ramón-Maiques, Santiago CSIC ORCID ; Gámez, Alejandra CSIC ORCID; Pérez, Belén CSIC ORCID | artículo |
| openAccess |  | 16-sep-2014 | A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liver | Gallego-Villar, Lorena CSIC ORCID; Viecelli, Hiu Man; Pérez, Belén CSIC ORCID; Harding, Cary O; Ugarte, Magdalena CSIC ; Thöny, Beat; Desviat, Lourdes R. CSIC ORCID | artículo |
| closedAccess |  | 2013 | Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency | Tondo, Mireia; Calpena, Eduardo CSIC ORCID; Arriola, Gema; Sanz, Paloma CSIC; Martorell, Loreto; Ormazabal, Aida; Castejón, Esperanza; Ugarte, Magdalena CSIC ; Espinós, Carmen CSIC ORCID; Pérez, Belén CSIC ORCID; Pérez-Dueñas, Belén; Artuch, Rafael | artículo |
| openAccess |  | 15-mar-2016 | Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment | Bravo-Alonso, Irene; Oyarzábal, Alfonso CSIC ORCID; Sánchez-Aragó, María CSIC; Rejas, M. Teresa CSIC ORCID ; Merinero, Begoña CSIC; García-Cazorla, Angels; Artuch, Rafael; Ugarte, Magdalena CSIC ; Rodríguez-Pombo, Pilar CSIC ORCID | artículo |
| openAccess |  | 29-jun-2017 | DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stress | Yuste-Checa, Patricia CSIC; Vega, Ana I.; Martín-Higueras, Cristina; Medrano, Celia; Gámez, Alejandra CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID | artículo |
| openAccess |  | 18-jul-2017 | Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia | Rivera-Barahona, Ana CSIC; Fulgencio-Covián, Alejandro; Pérez-Cerdá, Celia; Ramos, Ricardo; Barry, Michael A; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Richard, Eva CSIC ORCID; Desviat, Lourdes R. CSIC ORCID | artículo |
| openAccess |  | 9-mar-2016 | Endoplasmic reticulum stress and autophagy in homocystinuria patients with remethylation defects | Martínez-Pizarro, Ainhoa; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Richard, Eva CSIC ORCID | artículo |
| closedAccess |  | 2012 | Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia | Sánchez-Alcudia, Rocío CSIC; Pérez, Belén CSIC ORCID; Ugarte, Magdalena CSIC ; Desviat, Lourdes R. CSIC ORCID | artículo |
| closedAccess |  | 2012 | Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia | Gallego-Villar, Lorena CSIC ORCID; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID; Abia, David CSIC ORCID ; Ugarte, Magdalena CSIC ; Richard, Eva CSIC ORCID; Desviat, Lourdes R. CSIC ORCID | artículo |
| openAccess |  | 8-abr-2015 | Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man | Rivera-Barahona, Ana CSIC; Sánchez-Alcudia, Rocío CSIC; Viecelli, Hiu Man; Rüefenacht, Veronique; Pérez, Belén CSIC ORCID; Ugarte, Magdalena CSIC ; Häberle, Johannes; Thöny, Beat; Desviat, Lourdes R. CSIC ORCID | artículo |
| openAccess |  | 6-feb-2004 | Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency | Rodríguez, José M.; Ruiz-Sala, Pedro; Ugarte, Magdalena CSIC ; Peñalva, Miguel Ángel CSIC ORCID | artículo |
| openAccess |  | 30-jul-2004 | Fungal metabolic model for type I 3-methylglutaconic aciduria | Rodríguez, José M.; Ruiz-Sala, Pedro; Ugarte, Magdalena CSIC ; Peñalva, Miguel Ángel CSIC ORCID | artículo |
| openAccess |  | 22-may-2019 | Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene | López-Márquez, Arístides CSIC ORCID; Alonso-Barroso, Esmeralda; Cerro-Tello, Gema; Bravo-Alonso, Irene; Arribas-Carreira, Laura; Briso-Montiano, Álvaro CSIC ORCID; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Richard, Eva CSIC ORCID | artículo |
| openAccess |  | 16-jul-2019 | Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene | Arribas-Carreira, Laura; Bravo-Alonso, Irene; López-Márquez, Arístides CSIC ORCID; Alonso-Barroso, Esmeralda; Briso-Montiano, Álvaro CSIC ORCID; Arroyo, Ignacio; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Pérez-Cerdá, Celia; Rodríguez-Pombo, Pilar CSIC ORCID; Richard, Eva CSIC ORCID | artículo |
| openAccess |  | 22-jul-2017 | Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene | Alonso-Barroso, Esmeralda; Brasil, Sandra CSIC ORCID; Briso-Montiano, Álvaro CSIC ORCID; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Richard, Eva CSIC ORCID | artículo |
| openAccess |  | 5-abr-2018 | Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type | Richard, Eva CSIC ORCID; Brasil, Sandra CSIC ORCID; Briso-Montiano, Álvaro CSIC ORCID; Alonso-Barroso, Esmeralda; Gallardo, M. Esther CSIC ORCID; Merinero, Begoña CSIC; Ugarte, Magdalena CSIC ; Desviat, Lourdes R. CSIC ORCID; Pérez, Belén CSIC ORCID | artículo |
| openAccess |  | 1-nov-2019 | Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment | Bravo-Alonso, Irene; Navarrete, Rosa; Vega, Ana Isabel; Ruíz-Sala, Pedro; García Silva, María Teresa; Martín-Hernández, Elena; Quijada-Fraile, Pilar; Belanger-Quintana, Amaya; Stanescu, Sinziana; Bueno, María; Vitoria, Isidro; Toledo, Laura; Couce, María Luz; García-Jiménez, Inmaculada; Ramos-Ruiz, Ricardo CSIC ORCID; Martín, Miguel Ángel; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Merinero, Begoña CSIC; Pérez, Belén CSIC ORCID; Rodríguez-Pombo, Pilar CSIC ORCID | artículo |
| openAccess |  | nov-2018 | Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations | Rivera-Barahona, Ana CSIC; Navarrete, Rosa; García-Rodríguez, Raquel; Richard, Eva CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID; Gámez, Alejandra CSIC ORCID; Desviat, Lourdes R. CSIC ORCID | artículo |
| openAccess |  | 24-jul-2018 | Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants | Brasil, Sandra CSIC ORCID; Leal, Fátima CSIC; Vega, Ana; Navarrete, Rosa; Ecay, María J.; Desviat, Lourdes R. CSIC ORCID; Riera, Casandra; Padilla, Natàlia; de la Cruz, Xavier; Couce, María Luz; Martín-Hernández, Elena; Morais, Ana; Pedrón, Consuelo; Peña-Quintana, Luis; Rigoldi, Miriam; Specola, Norma; de Almeida, Isabel T.; Vives, Inmaculada; Yahyaoui, Raquel; Rodríguez-Pombo, Pilar CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Merinero, Begoña CSIC; Pérez, Belén CSIC ORCID | artículo |
| closedAccess |  | 2010 | Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch | Rivera, Henry; Merinero, Begoña CSIC; Ruiz-Sala, Pedro; Bornstein, Belén CSIC; Gallardo, M. Esther CSIC ORCID; Garesse, Rafael CSIC ORCID; Ugarte, Magdalena CSIC ; Martín, Miguel Ángel | artículo |
